3-4 October 2019, Grand Hotel Reykjavík, Iceland
16:00 - 18:00 | Parents meeting |
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18:00 - 20:00 | Registration and welcome reception at the hotel |
8:30 am | Welcome and remarks by Sigurður Jóhannesson |
8:45 am | OPENING REMARKS by Guðni Th. Jóhannesson, the President of Iceland (if his schedule permits) |
Session 1 | Examples of how research move towards understanding of disease and progress towards a cure |
Moderator: Hendrik Rosewich and Mohamad Mikati | |
8:55 - 9:00 | Introduction by chair Hendrik Rosewich |
9:00 - 9:30 | David Goldstein (invited speaker): "The long road toward precision medicine in neurological diseases" |
9:30 - 9:55 | Peter Vangheluwe (invited speaker): "A screening platform for P-type ATPase drug discovery" |
9:55 - 10:20 | Mohamad Mikati (invited speaker): "Mechanisms of AHC: From Molecules to Networks" |
10:20 - 10:50 | Coffee break and free poster time |
Session 2 | Current knowledge and treatment of ATP1A3 diseases |
Moderators: Hendrik Rosewich and David Goldstein | |
10:50 - 10:55 | Introduction by chair Hendrik Rosewich |
10:55 - 11:20 | Allison Brashear (invited speaker): "RDP phenotypes: The Tip of the Iceberg?" |
11:20 - 11:45 | Mohamad Mikati (invited speaker): "Therapy of AHC: State of the Art" |
11:45 - 11:55 | Eleni Panagiotakaki (selected oral presentation): "Brain MRI abnormalities in a French cohort of 22 ATP1A3 – positive AHC patients" |
11:55 - 12:05 | John P Snow (selected oral presentation): "An iPSC-Derived Model to Investigate Neural Lineage Contributions to Alternating Hemiplegia of Childhood" |
12:05 - 12:15 | Round the table discussion and questions for the box |
12:20 - 13:15 | Lunch |
Session 3 | New coming treatment of ATP1A3 diseases |
Moderators; Sigurður Hólmar Jóhannesson and Karin Lykke-Hartmann | |
13:15 - 13:20 | Introduction by chair Sigurður Hólmar Jóhannesson |
13:20 - 13:45 | Steven Gray (invited speaker): "Steps Toward Gene Therapy for ATP1A3" |
13:45 - 14:10 | Alfred L. George & Arn van den Maagdenberg (invited speaker & organizing committee member): “SCN2A: an AHC gene?” |
14:10 - 14:20 | Evgeny E. Akkuratov (selected oral presentation): "Abnormal gait control in a rapid-onset dystonia-parkinsonism mice mode" |
14:20 - 14:30 | Agathe Roubertie (selected oral presentation): "Non-paroxysmal movement disorders in patients with Alternating Hemiplegia of Childhood: “soft” and “stiff” " |
14:30 - 14:40 | Round the table discussion and questions for the box |
14:40 - 15:20 | Coffee break and poster session |
Session 4 | Quality of life and education |
Moderators: Sigurður Hólmar Jóhannesson and Kevin Ess | |
15:20 - 15:25 | Introduction by chair Sigurður Hólmar Jóhannesson |
15:25 - 15:45 | Hendrik Rosewich (organising committee member) - lecture title to be announced |
15:45 - 16:05 | Yr Sigurdardottir: "I met a zebra" - A talk about the difficulty in diagnosing rare diseases and the challenges of being the least knowledgeble person in the room |
16:05 - 16:20 | Laura Darick Heimgartner: "How do we manage this - AHC and the Quality of Life" - It's our story of where we began with AHC, and how we find our Hope and Relief in the daily struggles of AHC |
16:45 - 18:45 | Tour to the Perlan Museum (entrance and bus transport included in reg. fee) |
GROUP PHOTO at the museum | |
20:00 - 22:30 | SYMPOSIUM DINNER at the hotel (your symposium badge will serve as entrance) |
21:30 - 21:50 | Keynote Lecture by Helga Birgisdottir: "We Can Do It!" |
22:00 - 22:15 | Entertainment by singer Særún Harðardóttir |
22:30 - | Social interactions |
Session 5 | Molecular mechanisms of Na+K+-ATPases |
Moderators: Hanne Poulsen and Poul Nissen | |
8:30 - 8:35 | Introduction by chair Hanne Poulsen |
8:35 - 9:00 | Poul Nissen (organising committee member): "Electron microscopy studies of membrane proteins - towards structures of ATP1A3" |
9:00 - 9:25 | Marisol Sampedro Castaneda (invited speaker): "ATP1A3 phosphorylation by GAK kinases: a role in disease?" |
9:25 - 9:35 | Elena Arystarkhova (selected oral presentation): "Misfolding mutations in ATP1A3: cell biological approaches to overcome impaired biosynthesis" |
9:35 - 9:45 | Lorenzo Antonini (selected oral presentation): "ATP1A3 wild type and mutated isoforms molecular dynamics simulations in a lipid membrane bilayer. Insights on protein structure and ion interactions" |
9:45 - 10:30 | Coffee break and poster tours |
Session 6 | Towards new therapies |
Moderators: Karin Lykke-Hartmann and Arn Van den Maagdenberg | |
10:30 - 10:35 | Introduction by chair Karin Lykke-Hartmann |
10:35 - 11:00 | Guangping Gao (invited speaker): "Gene Therapy for CNS disorders – history, principles, challenges and approaches" |
11:00 - 11:25 | Francesco Danilo Tiziano (invited speaker): "Human neuroblastoma model of AHC: towards a medium throughput screening of candidate therapeutic compounds" |
11:25 - 11:35 | Alfred L. George (selected oral presentation): "Effects of Flunarizine on iPSC-derived Neurons from AHC Patients Exhibiting Divergent Clinical Responses" |
11:35 - 11:45 | Catherine Brownstein (selected oral presentation): "ATP1A3 variants in a Sudden Infant Death Syndrome cohort" |
11:45 - 12:00 | Round the table discussion and questions for the box |
12:00 - 13:00 | Lunch |
Session 7 | deCODE Genetics |
13:00 - 13:05 | Introduction by Sigurður Jóhannesson |
13:05 - 13:45 | Keynote Lecture by Hreinn Stefánsson, Head of the Central Nervous System Division at the company deCODE genetics: "From gene discovery to therapeutic advances" |
13:45 - 14:00 | Short break |
Session 8 | Moving towards the light |
By organising committee members: Karin Lykke-Hartmann |
Early bird | April - 31 May 2019 |
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Standard | 1 June - 1 August 2019 |
Abstract subm. | April - 1 August |
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Further confirmed invited speakers will be announced soon